********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** PDB: AF-P0CW18-F1-model_v6.spdb Chain: A Mutation Prediction RI Probability Method G19R Neutral 0 0.495 S3D-PROF: F[G]=73% F[R]=0% Nali=10 RSA=80 G19R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G19R Neutral 4 0.286 SNPs&GO G19R Neutral 8 0.111 S3Ds&GO P21S Disease 2 0.581 S3D-PROF: F[P]=83% F[S]=0% Nali=11 RSA=39 P21S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P21S Neutral 7 0.161 SNPs&GO P21S Neutral 7 0.173 S3Ds&GO L22M Neutral 1 0.436 S3D-PROF: F[L]=75% F[M]=0% Nali=11 RSA=72 L22M Unclassified NA NA PANTHER: F[L]=NA F[M]=NA L22M Neutral 9 0.065 SNPs&GO L22M Neutral 9 0.048 S3Ds&GO P28L Neutral 4 0.319 S3D-PROF: F[P]=69% F[L]=0% Nali=15 RSA=76 P28L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P28L Neutral 6 0.197 SNPs&GO P28L Neutral 10 0.010 S3Ds&GO S29N Neutral 5 0.244 S3D-PROF: F[S]=69% F[N]=0% Nali=15 RSA=65 S29N Unclassified NA NA PANTHER: F[S]=NA F[N]=NA S29N Neutral 7 0.151 SNPs&GO S29N Neutral 9 0.026 S3Ds&GO L34P Disease 4 0.688 S3D-PROF: F[L]=42% F[P]=0% Nali=11 RSA=1 L34P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L34P Neutral 4 0.301 SNPs&GO L34P Neutral 4 0.281 S3Ds&GO G38W Disease 6 0.799 S3D-PROF: F[G]=73% F[W]=0% Nali=14 RSA=0 G38W Unclassified NA NA PANTHER: F[G]=NA F[W]=NA G38W Neutral 1 0.454 SNPs&GO G38W Neutral 5 0.234 S3Ds&GO T39I Neutral 5 0.237 S3D-PROF: F[T]=61% F[I]=6% Nali=17 RSA=21 T39I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T39I Neutral 6 0.179 SNPs&GO T39I Neutral 9 0.029 S3Ds&GO W51G Neutral 2 0.385 S3D-PROF: F[W]=71% F[G]=0% Nali=16 RSA=43 W51G Unclassified NA NA PANTHER: F[W]=NA F[G]=NA W51G Disease 1 0.568 SNPs&GO W51G Neutral 8 0.091 S3Ds&GO G71R Neutral 7 0.144 S3D-PROF: F[G]=34% F[R]=5% Nali=55 RSA=98 G71R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G71R Neutral 9 0.059 SNPs&GO G71R Neutral 9 0.029 S3Ds&GO P82L Neutral 7 0.140 S3D-PROF: F[P]=40% F[L]=5% Nali=128 RSA=70 P82L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P82L Neutral 9 0.038 SNPs&GO P82L Neutral 10 0.008 S3Ds&GO C88W Disease 3 0.670 S3D-PROF: F[C]=89% F[W]=0% Nali=357 RSA=21 C88W Disease 10 0.990 PANTHER: F[C]=93% F[W]=0% C88W Disease 6 0.813 SNPs&GO C88W Disease 3 0.672 S3Ds&GO G89S Disease 1 0.556 S3D-PROF: F[G]=90% F[S]=4% Nali=362 RSA=0 G89S Disease 3 0.669 PANTHER: F[G]=79% F[S]=5% G89S Disease 2 0.603 SNPs&GO G89S Disease 0 0.503 S3Ds&GO R104L Disease 6 0.812 S3D-PROF: F[R]=85% F[L]=0% Nali=1001 RSA=56 R104L Disease 8 0.891 PANTHER: F[R]=66% F[L]=1% R104L Disease 7 0.834 SNPs&GO R104L Disease 6 0.777 S3Ds&GO I105L Disease 5 0.726 S3D-PROF: F[I]=89% F[L]=1% Nali=1036 RSA=3 I105L Disease 2 0.620 PANTHER: F[I]=67% F[L]=6% I105L Disease 1 0.549 SNPs&GO I105L Disease 2 0.619 S3Ds&GO I105S Disease 4 0.713 S3D-PROF: F[I]=89% F[S]=0% Nali=1036 RSA=3 I105S Disease 9 0.945 PANTHER: F[I]=67% F[S]=0% I105S Disease 7 0.852 SNPs&GO I105S Disease 5 0.765 S3Ds&GO V106E Disease 7 0.844 S3D-PROF: F[V]=75% F[E]=0% Nali=1041 RSA=16 V106E Disease 9 0.954 PANTHER: F[V]=67% F[E]=0% V106E Disease 8 0.886 SNPs&GO V106E Disease 9 0.934 S3Ds&GO V106G Disease 4 0.686 S3D-PROF: F[V]=75% F[G]=0% Nali=1041 RSA=16 V106G Disease 9 0.946 PANTHER: F[V]=67% F[G]=0% V106G Disease 5 0.736 SNPs&GO V106G Disease 7 0.846 S3Ds&GO V106L Disease 5 0.727 S3D-PROF: F[V]=75% F[L]=3% Nali=1041 RSA=16 V106L Disease 4 0.707 PANTHER: F[V]=67% F[L]=4% V106L Disease 4 0.687 SNPs&GO V106L Disease 7 0.842 S3Ds&GO G107A Disease 5 0.734 S3D-PROF: F[G]=92% F[A]=0% Nali=1041 RSA=55 G107A Disease 9 0.944 PANTHER: F[G]=95% F[A]=0% G107A Disease 5 0.757 SNPs&GO G107A Disease 7 0.837 S3Ds&GO G107E Disease 7 0.857 S3D-PROF: F[G]=92% F[E]=0% Nali=1041 RSA=55 G107E Disease 9 0.975 PANTHER: F[G]=95% F[E]=0% G107E Disease 7 0.851 SNPs&GO G107E Disease 9 0.938 S3Ds&GO G107R Disease 5 0.774 S3D-PROF: F[G]=92% F[R]=0% Nali=1041 RSA=55 G107R Disease 10 0.979 PANTHER: F[G]=95% F[R]=0% G107R Disease 6 0.803 SNPs&GO G107R Disease 7 0.860 S3Ds&GO G107V Disease 6 0.794 S3D-PROF: F[G]=92% F[V]=0% Nali=1041 RSA=55 G107V Disease 10 0.979 PANTHER: F[G]=95% F[V]=0% G107V Disease 7 0.825 SNPs&GO G107V Disease 7 0.863 S3Ds&GO G108D Disease 7 0.830 S3D-PROF: F[G]=99% F[D]=0% Nali=1042 RSA=14 G108D Disease 10 0.999 PANTHER: F[G]=99% F[D]=0% G108D Disease 6 0.800 SNPs&GO G108D Disease 8 0.899 S3Ds&GO G108R Disease 7 0.847 S3D-PROF: F[G]=99% F[R]=0% Nali=1042 RSA=14 G108R Disease 10 0.999 PANTHER: F[G]=99% F[R]=0% G108R Disease 6 0.790 SNPs&GO G108R Disease 8 0.890 S3Ds&GO G108S Disease 6 0.803 S3D-PROF: F[G]=99% F[S]=0% Nali=1042 RSA=14 G108S Disease 10 0.999 PANTHER: F[G]=99% F[S]=0% G108S Disease 5 0.765 SNPs&GO G108S Disease 8 0.906 S3Ds&GO A111G Disease 3 0.627 S3D-PROF: F[A]=61% F[G]=0% Nali=1044 RSA=11 A111G Disease 5 0.744 PANTHER: F[A]=40% F[G]=2% A111G Neutral 4 0.276 SNPs&GO A111G Disease 6 0.780 S3Ds&GO A111T Disease 1 0.544 S3D-PROF: F[A]=61% F[T]=8% Nali=1044 RSA=11 A111T Neutral 5 0.247 PANTHER: F[A]=40% F[T]=25% A111T Neutral 8 0.100 SNPs&GO A111T Neutral 3 0.366 S3Ds&GO A111V Disease 4 0.725 S3D-PROF: F[A]=61% F[V]=3% Nali=1044 RSA=11 A111V Disease 0 0.522 PANTHER: F[A]=40% F[V]=6% A111V Neutral 4 0.304 SNPs&GO A111V Disease 5 0.763 S3Ds&GO G114E Disease 7 0.845 S3D-PROF: F[G]=67% F[E]=2% Nali=1048 RSA=17 G114E Neutral 1 0.453 PANTHER: F[G]=27% F[E]=6% G114E Disease 2 0.609 SNPs&GO G114E Disease 3 0.661 S3Ds&GO G114R Disease 6 0.806 S3D-PROF: F[G]=67% F[R]=2% Nali=1048 RSA=17 G114R Disease 2 0.614 PANTHER: F[G]=27% F[R]=2% G114R Disease 3 0.636 SNPs&GO G114R Disease 3 0.636 SNPs&GO G114R Disease 4 0.695 S3Ds&GO G114V Disease 7 0.843 S3D-PROF: F[G]=67% F[V]=0% Nali=1048 RSA=17 G114V Disease 5 0.732 PANTHER: F[G]=27% F[V]=1% G114V Disease 3 0.661 SNPs&GO G114V Disease 7 0.832 S3Ds&GO W116C Disease 5 0.730 S3D-PROF: F[W]=68% F[C]=1% Nali=1049 RSA=2 W116C Disease 8 0.924 PANTHER: F[W]=27% F[C]=0% W116C Disease 2 0.606 SNPs&GO W116C Disease 7 0.870 S3Ds&GO W116L Disease 5 0.728 S3D-PROF: F[W]=68% F[L]=1% Nali=1049 RSA=2 W116L Disease 3 0.662 PANTHER: F[W]=27% F[L]=2% W116L Neutral 1 0.467 SNPs&GO W116L Disease 6 0.805 S3Ds&GO W116R Disease 3 0.672 S3D-PROF: F[W]=68% F[R]=0% Nali=1049 RSA=2 W116R Disease 8 0.887 PANTHER: F[W]=27% F[R]=0% W116R Disease 3 0.641 SNPs&GO W116R Disease 6 0.815 S3Ds&GO P117A Disease 4 0.714 S3D-PROF: F[P]=98% F[A]=0% Nali=1053 RSA=1 P117A Disease 5 0.739 PANTHER: F[P]=76% F[A]=4% P117A Neutral 1 0.472 SNPs&GO P117A Disease 5 0.773 S3Ds&GO P117S Disease 5 0.733 S3D-PROF: F[P]=98% F[S]=0% Nali=1053 RSA=1 P117S Disease 4 0.713 PANTHER: F[P]=76% F[S]=4% P117S Neutral 1 0.460 SNPs&GO P117S Disease 6 0.806 S3Ds&GO W118L Disease 5 0.761 S3D-PROF: F[W]=87% F[L]=0% Nali=1052 RSA=0 W118L Disease 7 0.875 PANTHER: F[W]=77% F[L]=1% W118L Disease 3 0.651 SNPs&GO W118L Disease 7 0.852 S3Ds&GO L119P Disease 4 0.724 S3D-PROF: F[L]=6% F[P]=0% Nali=1050 RSA=0 L119P Disease 3 0.625 PANTHER: F[L]=8% F[P]=0% L119P Disease 1 0.546 SNPs&GO L119P Disease 8 0.904 S3Ds&GO V120L Disease 3 0.663 S3D-PROF: F[V]=59% F[L]=1% Nali=1051 RSA=1 V120L Disease 2 0.581 PANTHER: F[V]=33% F[L]=4% V120L Neutral 3 0.357 SNPs&GO V120L Disease 3 0.672 S3Ds&GO R121W Disease 3 0.675 S3D-PROF: F[R]=4% F[W]=0% Nali=1053 RSA=23 R121W Disease 3 0.630 PANTHER: F[R]=4% F[W]=0% R121W Neutral 6 0.199 SNPs&GO R121W Disease 5 0.764 S3Ds&GO L122M Disease 1 0.558 S3D-PROF: F[L]=79% F[M]=2% Nali=1053 RSA=0 L122M Disease 6 0.790 PANTHER: F[L]=55% F[M]=2% L122M Neutral 5 0.242 SNPs&GO L122M Disease 2 0.603 S3Ds&GO G126E Disease 3 0.669 S3D-PROF: F[G]=52% F[E]=2% Nali=1034 RSA=43 G126E Disease 1 0.541 PANTHER: F[G]=35% F[E]=5% G126E Disease 3 0.635 SNPs&GO G126E Disease 0 0.516 S3Ds&GO G126R Neutral 0 0.491 S3D-PROF: F[G]=52% F[R]=4% Nali=1034 RSA=43 G126R Disease 1 0.546 PANTHER: F[G]=35% F[R]=5% G126R Disease 1 0.528 SNPs&GO G126R Neutral 5 0.247 S3Ds&GO G126V Disease 2 0.599 S3D-PROF: F[G]=52% F[V]=0% Nali=1034 RSA=43 G126V Disease 5 0.735 PANTHER: F[G]=35% F[V]=2% G126V Disease 3 0.661 SNPs&GO G126V Neutral 1 0.463 S3Ds&GO G126W Disease 3 0.640 S3D-PROF: F[G]=52% F[W]=0% Nali=1034 RSA=43 G126W Disease 9 0.949 PANTHER: F[G]=35% F[W]=0% G126W Disease 3 0.666 SNPs&GO G126W Disease 1 0.555 S3Ds&GO C130W Disease 6 0.811 S3D-PROF: F[C]=100% F[W]=0% Nali=1056 RSA=5 C130W Disease 10 1.000 PANTHER: F[C]=99% F[W]=0% C130W Disease 7 0.831 SNPs&GO C130W Disease 8 0.906 S3Ds&GO G131D Disease 7 0.831 S3D-PROF: F[G]=94% F[D]=0% Nali=1056 RSA=4 G131D Disease 9 0.930 PANTHER: F[G]=78% F[D]=0% G131D Disease 7 0.833 SNPs&GO G131D Disease 8 0.893 S3Ds&GO G131R Disease 7 0.846 S3D-PROF: F[G]=94% F[R]=0% Nali=1056 RSA=4 G131R Disease 9 0.951 PANTHER: F[G]=78% F[R]=0% G131R Disease 6 0.818 SNPs&GO G131R Disease 8 0.899 S3Ds&GO G131S Disease 5 0.771 S3D-PROF: F[G]=94% F[S]=1% Nali=1056 RSA=4 G131S Disease 4 0.707 PANTHER: F[G]=78% F[S]=5% G131S Disease 5 0.730 SNPs&GO G131S Disease 7 0.860 S3Ds&GO G132C Disease 7 0.839 S3D-PROF: F[G]=76% F[C]=1% Nali=1055 RSA=0 G132C Disease 9 0.947 PANTHER: F[G]=76% F[C]=0% G132C Disease 7 0.836 SNPs&GO G132C Disease 7 0.843 S3Ds&GO G132R Disease 6 0.822 S3D-PROF: F[G]=76% F[R]=0% Nali=1055 RSA=0 G132R Disease 9 0.954 PANTHER: F[G]=76% F[R]=0% G132R Disease 6 0.824 SNPs&GO G132R Disease 7 0.863 S3Ds&GO W139G Disease 0 0.524 S3D-PROF: F[W]=84% F[G]=0% Nali=1057 RSA=7 W139G Disease 8 0.911 PANTHER: F[W]=24% F[G]=0% W139G Disease 4 0.687 SNPs&GO W139G Disease 0 0.511 S3Ds&GO W139R Disease 2 0.579 S3D-PROF: F[W]=84% F[R]=0% Nali=1057 RSA=7 W139R Disease 8 0.900 PANTHER: F[W]=24% F[R]=0% W139R Disease 6 0.814 SNPs&GO W139R Disease 2 0.604 S3Ds&GO V140M Disease 1 0.535 S3D-PROF: F[V]=59% F[M]=0% Nali=1059 RSA=0 V140M Disease 7 0.863 PANTHER: F[V]=54% F[M]=1% V140M Disease 2 0.601 SNPs&GO V140M Neutral 1 0.425 S3Ds&GO T142K Disease 6 0.822 S3D-PROF: F[T]=76% F[K]=0% Nali=1059 RSA=0 T142K Disease 9 0.940 PANTHER: F[T]=80% F[K]=0% T142K Disease 6 0.788 SNPs&GO T142K Disease 8 0.904 S3Ds&GO T142P Disease 8 0.890 S3D-PROF: F[T]=76% F[P]=0% Nali=1059 RSA=0 T142P Disease 9 0.926 PANTHER: F[T]=80% F[P]=0% T142P Disease 5 0.773 SNPs&GO T142P Disease 8 0.894 S3Ds&GO A143T Disease 6 0.791 S3D-PROF: F[A]=97% F[T]=0% Nali=1059 RSA=0 A143T Disease 7 0.842 PANTHER: F[A]=81% F[T]=2% A143T Disease 6 0.791 SNPs&GO A143T Disease 6 0.783 S3Ds&GO A144G Disease 3 0.667 S3D-PROF: F[A]=92% F[G]=2% Nali=1059 RSA=2 A144G Disease 1 0.549 PANTHER: F[A]=73% F[G]=10% A144G Neutral 0 0.480 SNPs&GO A144G Disease 4 0.709 S3Ds&GO H145P Disease 8 0.898 S3D-PROF: F[H]=99% F[P]=0% Nali=1059 RSA=24 H145P Disease 10 1.000 PANTHER: F[H]=99% F[P]=0% H145P Disease 6 0.821 SNPs&GO H145P Disease 9 0.949 S3Ds&GO H145Y Disease 7 0.861 S3D-PROF: F[H]=99% F[Y]=0% Nali=1059 RSA=24 H145Y Disease 10 1.000 PANTHER: F[H]=99% F[Y]=0% H145Y Disease 7 0.830 SNPs&GO H145Y Disease 9 0.928 S3Ds&GO C146Y Disease 7 0.826 S3D-PROF: F[C]=100% F[Y]=0% Nali=1058 RSA=5 C146Y Disease 10 0.999 PANTHER: F[C]=99% F[Y]=0% C146Y Disease 8 0.879 SNPs&GO C146Y Disease 8 0.901 S3Ds&GO V174M Neutral 0 0.483 S3D-PROF: F[V]=66% F[M]=0% Nali=1038 RSA=0 V174M Disease 7 0.851 PANTHER: F[V]=49% F[M]=1% V174M Neutral 0 0.477 SNPs&GO V174M Neutral 2 0.379 S3Ds&GO T223P Disease 4 0.692 S3D-PROF: F[T]=38% F[P]=0% Nali=1056 RSA=28 T223P Neutral 2 0.411 PANTHER: F[T]=5% F[P]=1% T223P Neutral 5 0.227 SNPs&GO T223P Neutral 1 0.458 S3Ds&GO I227F Disease 6 0.786 S3D-PROF: F[I]=33% F[F]=0% Nali=1058 RSA=2 I227F Disease 4 0.713 PANTHER: F[I]=13% F[F]=0% I227F Disease 3 0.658 SNPs&GO I227F Disease 8 0.895 S3Ds&GO G231D Disease 7 0.836 S3D-PROF: F[G]=99% F[D]=0% Nali=1057 RSA=5 G231D Disease 10 0.975 PANTHER: F[G]=95% F[D]=0% G231D Disease 6 0.817 SNPs&GO G231D Disease 7 0.836 S3Ds&GO G237E Disease 6 0.788 S3D-PROF: F[G]=58% F[E]=3% Nali=1047 RSA=22 G237E Disease 3 0.675 PANTHER: F[G]=43% F[E]=3% G237E Disease 4 0.696 SNPs&GO G237E Disease 5 0.766 S3Ds&GO G237R Disease 5 0.768 S3D-PROF: F[G]=58% F[R]=1% Nali=1047 RSA=22 G237R Disease 5 0.739 PANTHER: F[G]=43% F[R]=2% G237R Disease 4 0.693 SNPs&GO G237R Disease 4 0.698 S3Ds&GO E245G Disease 2 0.587 S3D-PROF: F[E]=43% F[G]=1% Nali=1058 RSA=19 E245G Disease 5 0.734 PANTHER: F[E]=37% F[G]=2% E245G Neutral 2 0.407 SNPs&GO E245G Disease 5 0.750 S3Ds&GO L260P Disease 3 0.657 S3D-PROF: F[L]=14% F[P]=0% Nali=1040 RSA=17 L260P Disease 1 0.560 PANTHER: F[L]=1% F[P]=0% L260P Neutral 1 0.430 SNPs&GO L260P Disease 6 0.776 S3Ds&GO G263W Neutral 1 0.471 S3D-PROF: F[G]=41% F[W]=0% Nali=1027 RSA=60 G263W Disease 2 0.577 PANTHER: F[G]=2% F[W]=0% G263W Neutral 6 0.220 SNPs&GO G263W Neutral 3 0.330 S3Ds&GO A272P Disease 6 0.822 S3D-PROF: F[A]=93% F[P]=0% Nali=1050 RSA=0 A272P Disease 8 0.923 PANTHER: F[A]=81% F[P]=0% A272P Disease 4 0.688 SNPs&GO A272P Disease 7 0.840 S3Ds&GO G273E Disease 8 0.886 S3D-PROF: F[G]=98% F[E]=0% Nali=1047 RSA=1 G273E Disease 10 0.977 PANTHER: F[G]=95% F[E]=0% G273E Disease 6 0.815 SNPs&GO G273E Disease 8 0.914 S3Ds&GO Y274N Neutral 2 0.394 S3D-PROF: F[Y]=51% F[N]=2% Nali=999 RSA=51 Y274N Disease 4 0.677 PANTHER: F[Y]=27% F[N]=2% Y274N Disease 1 0.527 SNPs&GO Y274N Neutral 0 0.489 S3Ds&GO G278V Disease 6 0.793 S3D-PROF: F[G]=66% F[V]=0% Nali=1051 RSA=51 G278V Disease 5 0.760 PANTHER: F[G]=36% F[V]=1% G278V Disease 6 0.790 SNPs&GO G278V Disease 7 0.830 S3Ds&GO C282F Disease 6 0.814 S3D-PROF: F[C]=100% F[F]=0% Nali=1054 RSA=7 C282F Disease 10 1.000 PANTHER: F[C]=99% F[F]=0% C282F Disease 7 0.828 SNPs&GO C282F Disease 8 0.896 S3Ds&GO G284D Disease 5 0.769 S3D-PROF: F[G]=98% F[D]=0% Nali=1056 RSA=28 G284D Disease 9 0.942 PANTHER: F[G]=81% F[D]=0% G284D Disease 6 0.816 SNPs&GO G284D Disease 7 0.837 S3Ds&GO D285E Disease 6 0.815 S3D-PROF: F[D]=99% F[E]=0% Nali=1056 RSA=3 D285E Disease 8 0.897 PANTHER: F[D]=92% F[E]=1% D285E Disease 5 0.762 SNPs&GO D285E Disease 8 0.896 S3Ds&GO D285N Disease 4 0.711 S3D-PROF: F[D]=99% F[N]=0% Nali=1056 RSA=3 D285N Disease 9 0.935 PANTHER: F[D]=92% F[N]=0% D285N Disease 5 0.750 SNPs&GO D285N Disease 4 0.719 S3Ds&GO G287E Disease 8 0.904 S3D-PROF: F[G]=100% F[E]=0% Nali=1056 RSA=0 G287E Disease 10 0.977 PANTHER: F[G]=95% F[E]=0% G287E Disease 7 0.840 SNPs&GO G287E Disease 9 0.931 S3Ds&GO G287R Disease 7 0.873 S3D-PROF: F[G]=100% F[R]=0% Nali=1056 RSA=0 G287R Disease 10 0.981 PANTHER: F[G]=95% F[R]=0% G287R Disease 6 0.809 SNPs&GO G287R Disease 8 0.881 S3Ds&GO G288R Disease 7 0.867 S3D-PROF: F[G]=99% F[R]=0% Nali=1055 RSA=1 G288R Disease 10 0.981 PANTHER: F[G]=95% F[R]=0% G288R Disease 6 0.794 SNPs&GO G288R Disease 7 0.869 S3Ds&GO G288S Disease 7 0.829 S3D-PROF: F[G]=99% F[S]=0% Nali=1055 RSA=1 G288S Disease 9 0.958 PANTHER: F[G]=95% F[S]=0% G288S Disease 6 0.813 SNPs&GO G288S Disease 8 0.882 S3Ds&GO P289H Disease 5 0.774 S3D-PROF: F[P]=99% F[H]=0% Nali=1054 RSA=0 P289H Disease 10 0.989 PANTHER: F[P]=96% F[H]=0% P289H Disease 4 0.689 SNPs&GO P289H Disease 5 0.758 S3Ds&GO P289R Disease 5 0.774 S3D-PROF: F[P]=99% F[R]=0% Nali=1054 RSA=0 P289R Disease 10 0.981 PANTHER: F[P]=96% F[R]=0% P289R Disease 4 0.702 SNPs&GO P289R Disease 6 0.776 S3Ds&GO P289T Disease 7 0.838 S3D-PROF: F[P]=99% F[T]=0% Nali=1054 RSA=0 P289T Disease 9 0.974 PANTHER: F[P]=96% F[T]=0% P289T Disease 4 0.712 SNPs&GO P289T Disease 6 0.778 S3Ds&GO G312C Disease 8 0.892 S3D-PROF: F[G]=79% F[C]=0% Nali=1050 RSA=17 G312C Disease 9 0.949 PANTHER: F[G]=47% F[C]=0% G312C Disease 7 0.870 SNPs&GO G312C Disease 7 0.848 S3Ds&GO G312S Disease 4 0.682 S3D-PROF: F[G]=79% F[S]=4% Nali=1050 RSA=17 G312S Disease 2 0.621 PANTHER: F[G]=47% F[S]=4% G312S Disease 4 0.676 SNPs&GO G312S Disease 3 0.660 S3Ds&GO C313G Disease 4 0.703 S3D-PROF: F[C]=97% F[G]=0% Nali=1050 RSA=7 C313G Disease 10 0.998 PANTHER: F[C]=99% F[G]=0% C313G Disease 5 0.767 SNPs&GO C313G Disease 6 0.822 S3Ds&GO C313R Disease 6 0.791 S3D-PROF: F[C]=97% F[R]=0% Nali=1050 RSA=7 C313R Disease 10 0.999 PANTHER: F[C]=99% F[R]=0% C313R Disease 7 0.860 SNPs&GO C313R Disease 7 0.867 S3Ds&GO P316A Neutral 8 0.096 S3D-PROF: F[P]=43% F[A]=17% Nali=1047 RSA=61 P316A Neutral 5 0.227 PANTHER: F[P]=16% F[A]=12% P316A Neutral 9 0.049 SNPs&GO P316A Neutral 9 0.056 S3Ds&GO P319R Disease 5 0.771 S3D-PROF: F[P]=91% F[R]=0% Nali=1049 RSA=3 P319R Disease 10 0.981 PANTHER: F[P]=96% F[R]=0% P319R Disease 6 0.790 SNPs&GO P319R Disease 6 0.811 S3Ds&GO G320E Disease 8 0.898 S3D-PROF: F[G]=96% F[E]=0% Nali=1049 RSA=1 G320E Disease 10 0.977 PANTHER: F[G]=95% F[E]=0% G320E Disease 7 0.855 SNPs&GO G320E Disease 9 0.933 S3Ds&GO G320R Disease 7 0.860 S3D-PROF: F[G]=96% F[R]=0% Nali=1049 RSA=1 G320R Disease 10 0.981 PANTHER: F[G]=95% F[R]=0% G320R Disease 7 0.839 SNPs&GO G320R Disease 8 0.878 S3Ds&GO R324H Disease 4 0.721 S3D-PROF: F[R]=54% F[H]=1% Nali=1047 RSA=17 R324H Disease 7 0.864 PANTHER: F[R]=48% F[H]=1% R324H Disease 2 0.623 SNPs&GO R324H Disease 5 0.748 S3Ds&GO R324L Disease 7 0.843 S3D-PROF: F[R]=54% F[L]=2% Nali=1047 RSA=17 R324L Disease 7 0.853 PANTHER: F[R]=48% F[L]=1% R324L Disease 6 0.795 SNPs&GO R324L Disease 6 0.819 S3Ds&GO R324S Disease 2 0.602 S3D-PROF: F[R]=54% F[S]=5% Nali=1047 RSA=17 R324S Disease 1 0.558 PANTHER: F[R]=48% F[S]=6% R324S Disease 1 0.529 SNPs&GO R324S Disease 3 0.631 S3Ds&GO V325L Disease 3 0.634 S3D-PROF: F[V]=79% F[L]=4% Nali=1046 RSA=1 V325L Disease 3 0.666 PANTHER: F[V]=51% F[L]=4% V325L Disease 1 0.550 SNPs&GO V325L Disease 1 0.560 S3Ds&GO A326V Neutral 2 0.411 S3D-PROF: F[A]=12% F[V]=2% Nali=1046 RSA=6 A326V Neutral 2 0.389 PANTHER: F[A]=7% F[V]=2% A326V Neutral 7 0.148 SNPs&GO A326V Neutral 4 0.280 S3Ds&GO Mutation: WT+POS+NEW WT: Residue in wild-type protein POS: Residue position NEW: New residue after mutation Prediction: Neutral: Neutral variation Disease: Disease associated variation RI: Reliability Index Probability: Disease probability (if >0.5 mutation is predicted Disease) Method: SVM type and data PANTHER: Output of the PANTHER algorithm S3D-PROF: SVM input is the protein structure and profile at the mutated position SNPs&GO: SVM input is sequence and profile information and GO term features S3Ds&GO: SVM input is all the input in S3D-PROF, PANTHER and GO term features F[X]: Frequency of residue X in the sequence profile Nali: Number of aligned sequences in the mutated site RSA: Relative Solvent Accesible Area ********************************************************************************************** ** ** ** Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. (2009). Functional ** ** annotations improve the predictive score of human disease-related mutations in ** ** proteins. Human Mutation. 30:1237-1244. ** ** ** ** Capriotti E, Altman RB. (2011). Improving the prediction of disease-related vari- ** ** ants using protein three-dimensional structure. BMC Bioinformatics. 12 (Sup.4) S3. ** ** ** **********************************************************************************************